Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052798 | SCV001217024 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2710*) in the FLNC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the FLNC protein. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects FLNC function (PMID: 22961544, 26472074, 26969713). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 18314). This premature translational stop signal has been observed in individual(s) with filaminopathy (PMID: 15929027, 22961544). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
Ce |
RCV001091493 | SCV001247569 | pathogenic | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001091493 | SCV002023742 | pathogenic | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000019978 | SCV002522316 | pathogenic | Myofibrillar myopathy 5 | 2022-06-02 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000019978 | SCV003804688 | pathogenic | Myofibrillar myopathy 5 | 2023-01-06 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PS3, PP1_STR, PVS1_MOD, PM2_SUP |
OMIM | RCV000019978 | SCV000040276 | pathogenic | Myofibrillar myopathy 5 | 2007-06-01 | no assertion criteria provided | literature only |